Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review

2021 ◽  
Author(s):  
Raffaele Falsaperla ◽  
Valentina Giacchi ◽  
Maria Giovanna Aguglia ◽  
Janette Mailo ◽  
Maria Grazia Longo ◽  
...  
Keyword(s):  
Systematic Review ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Cost Effective ◽  
Monogenic Disease ◽  
Chromosomal Anomalies ◽  
Genetic Syndrome ◽  
Wide Range ◽  
Major Congenital Anomaly ◽  
Genomic Disorders

AbstractCongenital heart disease (CHD), the most common major congenital anomaly, is associated with a genetic syndrome (chromosomal anomalies, genomic disorders, or monogenic disease) in 30% of patients. The aim of this systematic review is to evaluate if, in the neonatal setting, clinical clues that orient the diagnostic path can be identified. For this purpose, we revised the most frequent dysmorphic features described in newborns with CHD, comparing those associated with monogenic syndromes (MSG) with the ones reported in newborns with genomic disorders. For this systematic review according to PRISMA statement, we used PubMed, Medline, Google Scholar, Scopus database, and search terms related to CHD and syndrome. We found a wide range of dysmorphisms (ocular region, ears, mouth, and/or palate and phalangeal anomalies) detected in more than half of MSGs were found to be associated with CHDs, but those anomalies are also described in genomic rearrangements syndromes with equal prevalence. These findings confirm that etiological diagnosis in newborns is challenging, and only the prompt and expert recognition of features suggestive of genetic conditions can improve the selection of appropriate, cost-effective diagnostic tests. However, in general practice, it is crucial to recognize clues that can suggest the presence of a genetic syndrome, and neonatologists often have the unique opportunity to be the first to identify abnormalities in the neonate.

scholarly journals Emergency atrial septostomy with nasogastric tube through umbilical venous route in neonates with critical congenital heart defects

2021 ◽  
Vol 8 (7) ◽  
pp. 1313
Author(s):  
Mallesh Kariyappa ◽  
Varun Govindarajan ◽  
Anil Kumar Hanumanna ◽  
Ashwini Harohalli Nagarasaiah ◽  
Meghana Jagadish
Keyword(s):  
Congenital Heart ◽  
Heart Diseases ◽  
Umbilical Vein ◽  
Heart Defects ◽  
Cost Effective ◽  
Feeding Tube ◽  
Successful Outcome ◽  
Nasogastric Feeding ◽  
Atrial Septostomy ◽  
The Right

Neonates born with critical duct dependent congenital heart diseases acutely deteriorate in first few days after birth when physiological conduits which allow for mixing blood close. Balloon Atrial septostomy is performed on emergency basis in such neonates to create a right to left intracardiac shunt, until a definitive surgery is performed, but requires a cardiac intervention setup. In settings where advanced cardiac interventions are not available, we propose an alternative approach for atrial septostomy using nasogastric feeding tube through umbilical venous route, under echocardiographic guidance. Feeding tube gradually inserted into the umbilical vein, reaches the right atrium, following which it is thrust into the atrial septum at the location of foramen ovale, perforating it to create an emergency conduit between the atria. We performed the above procedure in a neonate with dTGA at our NICU setup, with partially successful outcome. We propose this method as an alternative, safe, simple and cost effective procedure, though not definitive, in resource limited settings for emergency stabilisation of neonates with critical duct dependent heart defects.

scholarly journals Prevalence of Extra-Cardiac Malformations with Congenital Heart Disease among Hospital Admitted Children- A Study in a Tertiary Level Hospital of Bangladesh

2015 ◽  
Vol 10 (2) ◽  
pp. 50-54
Author(s):  
Md Ferdousur Rahman Sarker ◽  
Zahir Sadique ◽  
Nurun Nahar Fatema Begum ◽  
Mushtaq Ahmad
Keyword(s):  
Hospital Admission ◽  
Congenital Heart ◽  
Genetic Basis ◽  
Heart Diseases ◽  
Significant Proportion ◽  
Admission Rate ◽  
Congenital Heart Diseases ◽  
Hospital Admission Rate ◽  
Genetic Syndrome ◽  
Cardiac Malformations

Introduction: Congenital anomalies are a major cause of stillbirths and infant mortality. In this post genomic era, congenital heart diseases (CHDs) are still the most common and lethal of all birth defects in children. Although most of the CHD occur as a sporadic event many of them have a well-defined genetic basis. This genetic basis is expressed in the form of concomitant occurrence of extra-cardiac malformations (ECM) which may occur alone or as a part of a syndrome.Objective: The present study was designed to find out the burden of CHDs in the hospital admitted children and to find out the prevalence of occurrence of clinically recognizable ECM associated with CHDs.Methods: This is a cross-sectional hospital based study. Total patients admitted during the study period were 5264. Of these 335 patients were found suffering from different types of congenital heart diseases. This gives the hospital admission rate for CHD, as 63.6 per 1000 admission (6.36%). Out of total 335 cases of CHD, 273 (81.5%) were acyanotic and 62 (18.5%) were cyanotic. Among the CHD patients 68 (20.3%) had a significant ECM. Out of the 68 patients with a significant ECM 53 (77.9%) had a clinically recognizable genetic syndrome, whereas 15 cases (22.1%) had a major ECM which was not a part of a syndrome.Conclusion: A high rate of hospital admission is found for CHDs in the pediatric setting, signifying the need for improvement of pediatric cardiology infrastructure in Bangladesh, which should help in providing better medical and surgical care for the patients with CHD. A significant proportion of patients with CHD have associated ECM, implicating a genetic background for the etiology of CHD. It also emphasizes the need for thorough evaluation of patient with CHD for ECM.Journal of Armed Forces Medical College Bangladesh Vol.10(2) 2014

scholarly journals Population-based Respiratory Syncytial Virus Hospitalization Disease Burden and Cost Effectiveness of Palivizumab Prophylaxis in Infants with Hemodynamically Significant Congenital Heart Diseases

2020 ◽  
Author(s):  
Robin Hay-son Chen ◽  
Susan Shui-seng Chiu ◽  
So-lun Lee ◽  
Tak-Cheung Yung
Keyword(s):  
Respiratory Syncytial Virus ◽  
Cost Effectiveness ◽  
Dose Regimen ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Cost Effective ◽  
Population Based ◽  
Number Needed To Treat ◽  
Program Cost ◽  
Syncytial Virus

Abstract Background Infants with hemodynamically significant congenital heart disease (HsCHD) are at risk of respiratory syncytial virus hospitalization (RSVh) and Palivizumab has been shown to be effective in preventing RSVh in regions with a distinct RSV season. However, the incidence of RSVh in HsCHD patients and the cost-effectiveness of Palivizumab in regions with year-round RSV activity is largely unknown. Methods All HsCHD patients < 12 months of age referred to the only tertiary pediatric cardiology center in Hong Kong during 1 Jan 2014 to 31 Dec 2016 were included. RSVh rate, Palivizumab efficacy and cost-effectiveness were assessed using a 5 or 6 monthly dose regimen starting from first hospital discharge. Results Twenty-six RSVh (11%) were identified out of 236 HsCHD patients. 222 patients were included for further analysis of Palivizumab efficacy and cost-effectiveness. The number needed to treat to prevent RSVh using 5 and 6 dose regimen was 54.9 and 38, respectively, with a wide year-to-year variation from 25 to 166.6. RSVh cost without Palivizumab was $379,436; while palivizumab program cost for 5 and 6 dose were $727,481 and $849,888 respectively. Incremental cost-effective ratio per hospital admission prevented was $85,937 and $80,419 for 5 and 6 dose regimen, respectively, with a wide year-to-year variation from $40,410 to $277,367. Conclusion This is one of the first population-based studies in infants with HsCHD demonstrating a high RSVh burden in a region with round the year circulation of RSV. Palivizumab program was assessed to be not cost-effective in preventing RSVh in such a locality.

scholarly journals Barriers and Facilitators to the Uptake of New Medicines into Clinical Practice: A Systematic Review

2021 ◽  
Author(s):  
Kristina Medlinskiene ◽  
Justine Tomlinson ◽  
Iuri Marques ◽  
Sue Richardson ◽  
Katherine Stirling ◽  
...  
Keyword(s):  
Systematic Review ◽  
Clinical Practice ◽  
Secondary Data ◽  
Cost Effective ◽  
Organizational Factors ◽  
Barriers And Facilitators ◽  
Future Research ◽  
Framework Analysis ◽  
Factors Affecting ◽  
Wide Range

Abstract Background: Implementation and uptake of novel and cost-effective medicines can improve patient health outcomes and healthcare efficiency. However, the uptake of new medicines into practice faces a wide range of obstacles Earlier reviews provided insight into determinants for new medicine uptake (such as medicine, prescriber, patient, organization, and external environment factors), but the methodological approaches used had limitations (e.g., single author, narrative review, narrow search, no quality assessment of reviewed evidence).This systematic review aims to identify barriers and facilitators affecting the uptake of new medicines into clinical practice and identify areas for future research. Method: A systematic search was undertaken within seven databases. Eligible qualitative, quantitative, and mixed-methods studies focused on adult participants (18 years and older) requiring or taking new medicine(s) for any condition, in the context of healthcare organizations and identified factors affecting the uptake of new medicines. The methodological quality was assessed using QASTDD tool. A narrative synthesis of reported factors was conducted using framework analysis and conceptual framework was utilised to group them. Results: A total of 66 studies were included. Most studies (n=62) were quantitative and used secondary data (n=46) from various databases, e.g., insurance databases. The identified factors had a varied impact on the uptake of the different studied new medicines. Differently from earlier reviews, patient factors (patient education, engagement with treatment, therapy preferences), cost of new medicine, reimbursement and formulary conditions, and guidelines were suggested to influence the uptake. Also, the review highlighted that health economics, wider organizational factors, and underlying behaviours of adopters were not or under explored. Conclusion: This systematic review identifies additional factors affecting new medicine use not reported in earlier reviews, which included patient influence and education level, cost of new medicines, formulary and reimbursement restrictions, and guidelines. Further research employing determinant frameworks or implementation theories is needed to gain a better understanding of factors, especially patient, prescriber, and organizational, affecting the uptake of new medicines into clinical practice.Registration: PROSPERO database (CRD42018108536)

scholarly journals The epidemiology of congenital heart diseases in Saudi Arabia: A systematic review

2015 ◽  
Vol 7 (7) ◽  
pp. 232-240 ◽  
Author(s):  
M Alenezi Amirah ◽  
M Albawardi Nada ◽  
Ali Anna ◽  
S Househ Mowafa ◽  
Elmetwally Ashraf
Keyword(s):  
Systematic Review ◽  
Saudi Arabia ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Congenital Heart Diseases

scholarly journals Prevalence and patterns of congenital heart diseases in Africa: a systematic review and meta-analysis protocol

BMJ Open ◽  
2017 ◽  
Vol 7 (2) ◽  
pp. e015633 ◽  
Author(s):  
Aurel T Tankeu ◽  
Jean Joel R Bigna ◽  
Jobert Richie N Nansseu ◽  
Leopold Ndemnge Aminde ◽  
Celestin Danwang ◽  
...  
Keyword(s):  
Systematic Review ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Meta Analysis ◽  
Congenital Heart Diseases ◽  
Analysis Protocol

Association of MTHFR A1298C polymorphism with conotruncal heart disease

2014 ◽  
Vol 25 (7) ◽  
pp. 1326-1331 ◽  
Author(s):  
Beyza D. Sayin Kocakap ◽  
Cihat Sanli ◽  
Feryal Cabuk ◽  
Murat Koc ◽  
Ali Kutsal
Keyword(s):  
Heart Disease ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Control Group ◽  
Genotype Distribution ◽  
Mthfr A1298c ◽  
Wide Range ◽  
Significant Difference ◽  
A1298c Polymorphism

AbstractCongenital heart diseases are common congenital anomalies with 1% prevalence worldwide and are associated with significant childhood morbidity and mortality. Among a wide range of aetiologically heterogeneous conditions, conotruncal anomalies account for approximately one-third of all congenital heart defects. The aetiology of conotruncal heart diseases is complex, with both environmental and genetic causes. Hyperhomocysteinaemia, which is often accompanied by the defects of folic acid metabolism, is known to cause conotruncal heart anomalies. In this study, we have evaluated three polymorphisms in the following two hyperhomocysteinaemia-related genes: methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) and nicotinamide N-methyl transferase (NNMT rs694539) in 79 children with conotruncal heart disease and 99 children without conotruncal heart disease. Genotype distribution of the MTHFR A1298C polymorphism showed a statistically significant difference between the two groups. In the case group, AC and CC genotypes were higher than the control group (p<0.05). We have found that MTHFR A1298C polymorphism is associated with conotruncal heart disease; C allele (p=0.028), AC (OR[95% CI]=2.48[1.24–4.95], p=0.010), CC (OR[95% CI]=3.01[1.16–7.83], p=0.023), and AC+CC (OR[95% CI]=2.60[1.36–4.99], p=0.004) genotypes are more frequent in the patient group. Genotype distributions of the MTHFR C677T and NNMT rs694539 polymorphisms were similar in the two groups when evaluated separately and also according to the dominant genetic model (p>0.05). Our results suggest that MTHFR 1298C allele is a risk factor for conotruncal heart disease.

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